Canonical Allele Identifier: CA483894445

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516625C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942489C>G , CM000675.2:g.51942489C>G	GRCh38
NC_000013.10:g.52516625C>G , CM000675.1:g.52516625C>G	GRCh37
NC_000013.9:g.51414626C>G	NCBI36
NG_008806.1:g.74006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*959G>C	ENSP00000489512.2:n.*959G>C
ENST00000673864.2:c.*2053G>C	ENSP00000501045.2:n.*2053G>C
ENST00000674147.2:c.2688G>C	ENSP00000500964.2:p.Gly896=
ENST00000242839.10:c.3309G>C MANE Select	ENSP00000242839.5:p.Gly1103=
ENST00000344297.9:c.2688G>C	ENSP00000342559.5:p.Gly896=
ENST00000400366.6:c.2976G>C	ENSP00000383217.3:p.Gly992=
ENST00000448424.7:c.3057G>C	ENSP00000416738.3:p.Gly1019=
ENST00000673772.1:c.3075G>C	ENSP00000501168.1:p.Gly1025=
ENST00000673867.1:n.3448G>C
ENST00000674126.1:n.3672G>C
ENST00000674147.1:c.2244G>C	ENSP00000500964.1:p.Gly748=
ENST00000242839.8:c.3309G>C	ENSP00000242839.4:p.Gly1103=
ENST00000344297.8:c.2688G>C	ENSP00000342559.5:p.Gly896=
ENST00000400366.5:c.2976G>C	ENSP00000383217.3:p.Gly992=
ENST00000400370.8:c.2019G>C	ENSP00000383221.3:p.Gly673=
ENST00000418097.7:c.3114G>C	ENSP00000393343.2:p.Gly1038=
ENST00000448424.6:c.3075G>C	ENSP00000416738.2:p.Gly1025=
ENST00000634296.1:c.1087G>C
ENST00000634308.1:c.*410G>C	ENSP00000489234.1:n.*410G>C
ENST00000634620.1:n.4053G>C
ENST00000634810.1:n.2654G>C
ENST00000634844.1:c.3165G>C	ENSP00000489398.1:p.Gly1055=
NM_000053.3:c.3309G>C	NP_000044.2:p.Gly1103=
NM_001005918.2:c.2688G>C	NP_001005918.1:p.Gly896=
NM_001243182.1:c.2976G>C	NP_001230111.1:p.Gly992=
XM_005266423.2:c.3213G>C	XP_005266480.1:p.Gly1071=
XM_005266424.3:c.3213G>C	XP_005266481.1:p.Gly1071=
XM_005266427.2:c.3075G>C	XP_005266484.1:p.Gly1025=
XM_005266428.1:c.3057G>C	XP_005266485.1:p.Gly1019=
XM_005266430.3:c.3309G>C	XP_005266487.1:p.Gly1103=
XM_005266431.2:c.3273G>C	XP_005266488.1:p.Gly1091=
XM_005266432.2:c.2823G>C	XP_005266489.1:p.Gly941=
XM_006719837.2:c.3213G>C	XP_006719900.1:p.Gly1071=
XM_006719838.1:c.1125G>C	XP_006719901.1:p.Gly375=
XM_006719839.1:c.942G>C	XP_006719902.1:p.Gly314=
XM_011535117.1:c.3213G>C	XP_011533419.1:p.Gly1071=
XM_011535118.1:c.3174G>C	XP_011533420.1:p.Gly1058=
XM_011535119.1:c.3126G>C	XP_011533421.1:p.Gly1042=
XM_011535120.1:c.2895G>C	XP_011533422.1:p.Gly965=
XM_011535121.1:c.2796G>C	XP_011533423.1:p.Gly932=
XM_011535122.1:c.1977G>C	XP_011533424.1:p.Gly659=
XR_941601.1:n.3528G>C
XR_941602.1:n.3528G>C
XR_941603.1:n.3528G>C
XR_941604.1:n.3528G>C
NM_001330578.1:c.3075G>C	NP_001317507.1:p.Gly1025=
NM_001330579.1:c.3057G>C	NP_001317508.1:p.Gly1019=
XM_005266424.4:c.3213G>C	XP_005266481.1:p.Gly1071=
XM_005266430.4:c.3309G>C	XP_005266487.1:p.Gly1103=
XM_005266431.4:c.3273G>C	XP_005266488.1:p.Gly1091=
XM_006719837.3:c.3213G>C	XP_006719900.1:p.Gly1071=
XM_011535117.3:c.3213G>C	XP_011533419.1:p.Gly1071=
XM_017020627.1:c.3213G>C	XP_016876116.1:p.Gly1071=
NM_000053.4:c.3309G>C MANE Select	NP_000044.2:p.Gly1103=
NM_001005918.3:c.2688G>C	NP_001005918.1:p.Gly896=
NM_001330579.2:c.3057G>C	NP_001317508.1:p.Gly1019=
NM_001243182.2:c.2976G>C	NP_001230111.1:p.Gly992=
NM_001330578.2:c.3075G>C	NP_001317507.1:p.Gly1025=